Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Curial exegese do art. 14, caput, da lei 9.307/96: hermenêutica lege ferenda ou real vontade do legislador?

Considerando toda a evolução da ciência processual, não há mais qualquer dúvida acerca da importância de se garantir juízes imparciais para o exercício da atividade jurisdicional. Em sede de arbitragem, a preocupação não poderia ser diferente. Dado que o árbitro exerce igualmente as prerrogativas concedidas pela jurisdição, sendo árbitro de fato e de direito, a necessidade de que sejam pessoas munidas de inquestionável imparcialidade e independência em relação às partes é ainda maior, dado que a confiança é o principal requisito para a função de tal munus. Desta forma, o trabalho pretende compreender se pode o princípio da autonomia da vontade das partes relativizar a proibição estabelecida em lei, que impede a atuação de árbitros quando incidentes nas hipóteses de impedimento e suspeição.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Jornal da UNESP, 2015, ano XXIX, n. 307

Jornal elaborado pela Assessoria de Comunicação e Imprensa da Reitoria da UNESP

Complete Genome Sequence of KPC-3- and CTX-M-15-Producing Klebsiella pneumoniae Sequence Type 307.

Klebsiella pneumoniaesequence type (ST) 307, carryingblaKPC-3,blaCTX-M-15,blaOXA-1,aac(6')-Ib-cr, andqnrB1 genes, is replacing the predominant hyperepidemic ST258 clone in Italy. Whole-genome and complete plasmid sequencing of one ST307 strain was performed and new features were identified.

Na 1 Nachlass Max Horkheimer, 307 - Korrespondenzen u.a. mit Arcadius Rudolf L. Gurland (p. V 92, 1-38)

Institut für politische Wissenschaft Berlin: Informationen; beteiligt: Arcadius Rudolf L. Gurland, 1960-1962; 16 Briefe mit Beilagen zwischen Arcadius Rudolf L. Gurland und Max Horkheimer, 1954-1957; Briefwechsel zwischen Prof. Carlo Schmid und Max Horkheimer, 1954; 3 Briefe zwischen Prof. Wilhelm Hennis und Max Horkheimer, 1953;

Na 50 Nachlass Arthur Schopenhauer - 'Schopenhauer-Archiv', 307 - Mitteilung an Professor Hugo von Meltzl über das Veröffentlichungsdatum des 4. Bandes des "Handschriftlichen Nachlasses"

u.a.: Eduard Grisebach;

Ms.Ff.F.Stoltze 3. 307 - Brief von Leopold Sonnemann an Friedrich Stoltze

Scharlensky-Müller, Haus am Gruneburgweg